316例终止妊娠病例的细胞遗传学分析
|
摘要
目的探讨终止妊娠病例中染色体异常的类型及占比,为减少出生缺陷提供产前检查指导。方法通过对316例终止妊娠病例做中孕期羊水穿刺、晚孕期胎儿脐血穿刺,行细胞遗传学检查。结果 316例终止妊娠病例中检出异常核型244例(77. 2%),正常核型72例(22. 8%)。其中21-三体综合征155例,18-三体综合征55例,13-三体综合征7例,性染色体异常26例; 115例高龄孕妇中检出染色体异常100例,异常率达87. 0%。结论在终止妊娠病例中,染色体异常是其重要原因,以21-三体综合征最多见。高危孕妇应行产前染色体诊断,最大限度地避免染色体异常胎儿出生。
Objective To investigate the type and proportion of chromosome abnormality in pregnancy and provide prenatal guidance for reducing birth defects. Methods Cytogenetic tests were performed on 316 cases of pregnant women who were pregnant with amniotic fluid puncture and fetal umbilical cord blood puncture during pregnancy. Results There were 244 cases of abnormal nuclear type( 77. 2%) and 72 cases( 22. 8%) of the normal nuclear type. Among them,there were 155 cases of21-trisomy syndrome,55 cases of 18-trisomy syndrome,7 cases of 13-trisomy syndrome,26 cases of sex chromosome abnormality. There were 100 cases of chromosomal abnormality in 115 elderly pregnant women,with an abnormal rate of87. 0%. Conclusion Chromosome abnormality is the most important reason in the termination of pregnancy,with 21-trisomy syndrome as the dominant. High-risk pregnant women should undergo prenatal chromosome diagnosis to minimize the birth of chromosomal diseases.
Objective To investigate the type and proportion of chromosome abnormality in pregnancy and provide prenatal guidance for reducing birth defects. Methods Cytogenetic tests were performed on 316 cases of pregnant women who were pregnant with amniotic fluid puncture and fetal umbilical cord blood puncture during pregnancy. Results There were 244 cases of abnormal nuclear type( 77. 2%) and 72 cases( 22. 8%) of the normal nuclear type. Among them,there were 155 cases of21-trisomy syndrome,55 cases of 18-trisomy syndrome,7 cases of 13-trisomy syndrome,26 cases of sex chromosome abnormality. There were 100 cases of chromosomal abnormality in 115 elderly pregnant women,with an abnormal rate of87. 0%. Conclusion Chromosome abnormality is the most important reason in the termination of pregnancy,with 21-trisomy syndrome as the dominant. High-risk pregnant women should undergo prenatal chromosome diagnosis to minimize the birth of chromosomal diseases.
引文
[1] Miyuki N,Jim Y,Junko Y,et al. Chromosome abnormalities diagnosed in utero:a Japanese study of 28983 amniotic fluid specimens collected before 22 weeks gestations[J]. J Hum Genet,2015,60:133-137.
[2]蒋武,黄永全,覃頔.南宁市2009-2014年围产儿出生缺陷性别差异研究[J].中国初级卫生保健,2016,30(1):33-35.
[3]陈佳鹏,宋新明,陈功.欧洲关于产前检查并终止妊娠对出生缺陷监测发生率影响的资料分析[J].中国计划生育学杂志,2006,14(6):345-348.
[4]唐萍,张卫华,贾阳波.产前诊断胎儿缺陷终止妊娠601例分析[J].浙江预防医学,2015,27(1):1160-1164.
[5]吴小青,李英,谢晓蕊,等. 3240名高龄孕妇胎儿染色体核型分析[J].中华医学遗传学杂志,2014,32(2):255-257.
[6]陈汝芳,欧水英,孙雯雯,等.高龄孕妇染色体异常核型产前筛查相关因素分析[J].中国妇幼保健学报,2014,29(16):2578-2581.
[7]关长吉,倪香,梁悦,等. 50例染色体异常核型的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(6):885-887.
[8]林小玲,谢番妮,唐少华,等.胎儿染色体相互易位的产前诊断和临床咨询[J].中华医学遗传学杂志,2013,30(5):612-615.
[9]马骞,赵军红,朱若男,等. 3827例孕妇胎儿羊水细胞染色体核型研究[J].中华医学遗传学杂志,2017,34(1):144-146.
[10] Xiao H,Yang YI,Zhang CY,et al. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis[J]. J Obstet Gynaecol,2016,36(3):293-296.
[11]冯杰彬,郝建锁,陈亦阳,等. 18q缺失综合征患者的染色体微阵列分析[J].中华医学遗传学杂志,2016,33(2):203-207.
[12]苏林涓,吴小青,李英,等. 56例羊水细胞嵌合体产前诊断及妊娠结局分析[J].中华医学遗传学杂志,2016,33(1):122-124.
[13] Boito S,Crovetto F,Ischia B,et al. Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios[J]. Prenat Diagn,2016,36(8):726-730.
[14] Wapner RJ,Martin CL,Levy B,et al. Chromosomal microarray versus karyotyping for prenatal diagnosis[J]. N Engl J Med,2012,367(23):2175-2184.
[15] Leon E,Zou YS,Milunsky JM. Mosaic down syndrome in a patient with low-level mosaicism detected by microarray[J]. Am J Med Genet A,2010,152A(12):3154-3156.
[2]蒋武,黄永全,覃頔.南宁市2009-2014年围产儿出生缺陷性别差异研究[J].中国初级卫生保健,2016,30(1):33-35.
[3]陈佳鹏,宋新明,陈功.欧洲关于产前检查并终止妊娠对出生缺陷监测发生率影响的资料分析[J].中国计划生育学杂志,2006,14(6):345-348.
[4]唐萍,张卫华,贾阳波.产前诊断胎儿缺陷终止妊娠601例分析[J].浙江预防医学,2015,27(1):1160-1164.
[5]吴小青,李英,谢晓蕊,等. 3240名高龄孕妇胎儿染色体核型分析[J].中华医学遗传学杂志,2014,32(2):255-257.
[6]陈汝芳,欧水英,孙雯雯,等.高龄孕妇染色体异常核型产前筛查相关因素分析[J].中国妇幼保健学报,2014,29(16):2578-2581.
[7]关长吉,倪香,梁悦,等. 50例染色体异常核型的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(6):885-887.
[8]林小玲,谢番妮,唐少华,等.胎儿染色体相互易位的产前诊断和临床咨询[J].中华医学遗传学杂志,2013,30(5):612-615.
[9]马骞,赵军红,朱若男,等. 3827例孕妇胎儿羊水细胞染色体核型研究[J].中华医学遗传学杂志,2017,34(1):144-146.
[10] Xiao H,Yang YI,Zhang CY,et al. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis[J]. J Obstet Gynaecol,2016,36(3):293-296.
[11]冯杰彬,郝建锁,陈亦阳,等. 18q缺失综合征患者的染色体微阵列分析[J].中华医学遗传学杂志,2016,33(2):203-207.
[12]苏林涓,吴小青,李英,等. 56例羊水细胞嵌合体产前诊断及妊娠结局分析[J].中华医学遗传学杂志,2016,33(1):122-124.
[13] Boito S,Crovetto F,Ischia B,et al. Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios[J]. Prenat Diagn,2016,36(8):726-730.
[14] Wapner RJ,Martin CL,Levy B,et al. Chromosomal microarray versus karyotyping for prenatal diagnosis[J]. N Engl J Med,2012,367(23):2175-2184.
[15] Leon E,Zou YS,Milunsky JM. Mosaic down syndrome in a patient with low-level mosaicism detected by microarray[J]. Am J Med Genet A,2010,152A(12):3154-3156.